Thursday, February 26, 2015

Rare Flower

A 25 year old G1P0 woman is followed by maternal-fetal-medicine because her fetus has severe intrauterine growth restriction. The patient is otherwise healthy but her family history is unknown because she was adopted. A healthy baby is born vaginally with no peripartum medical problems. The baby has very little adipose tissue giving her a wasted look.

Over the first year of life, the baby comes to the pediatrician's attention because of small stature and microcephaly. She otherwise has preserved body proportions. Growth hormone is normal. The child has malar hypoplasia, nasal prominence, a small mandible, protuberant ears, and no upper lateral incisors. She has several admissions to the hospital for recurrent vomiting and diarrhea leading to dehydration.

Over the second year of life, the family notices that she is quite sun-sensitive. In fact, she develops the characteristic rash of lupus, but a pediatric rhematologist rules that diagnosis out. She gets rashes on sun-exposed areas like the dorsum of the hands. She develops well-demarcated patches of hypopigmentation as well as cafe-au-lait spots, mostly on the trunk.

Her childhood years are characterized by gastroesophageal reflux disease, recurrent sinus infections, recurrent otitis media, and pneumonia. She has normal antibody responses to vaccines.

By age 10, she has a diagnosis of non-Hodgkin's lymphoma. By age 15, she has a second cancer diagnosis of leukemia. Her intelligence is slightly below average, but not remarkably so. She has impaired glucose tolerance. Later in life, she develops colon cancer, diabetes, and premature menopause.

Challenge: What is this autosomal recessive disorder?

3 comments:

RaH said...

I'm betting on Neurofibromatosis, Type I. Cafe au lait and several cancerous mutations make it likely...
some classical characteristics are missing but it could be.

RaH said...

if not Neurofibromatosis it could be another RAS-pathology. Legius, Noonan, Loh Leopard...

Craig Chen said...

good thought - NF is definitely on the differential
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Rare Flower

This is Bloom syndrome, a chromosomal breakage syndrome associated with immunodeficiency.

Source: UpToDate.